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Efficient Strategy for Molecular Diagnosis of Wilson Disease in the Sardinian Population

¹ Instituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale Richerche, Cagliari, via Boccaccio 8, 0947 Selagius, Italy

² Dipartmento di Scienze Biomediche e Biotecnologie, Università di Cagliari, via Jenner s/n, 09121 Cagliari, Italy

³ Ospedale Regionale per Le Microcitemie, Azienda Sanitaria Locale 8, Cagliari, Via Jenner s/n, 09131 Cagliari-Sardegna, Italy

^aauthor for correspondence: fax 39-070-503696, e-mail gloudian@mcweb.unica.it

The first 20% of the full text of this article appears below.

Wilson disease (WD) is an autosomal recessive disorder of copper transport resulting from the defective function of a copper-transporting ATPase (ATP7B) (1)(2)(3). More than 200 disease-causing mutations have been identified (4). In the Sardinian population, WD has an incidence of 1 in 7000 live births (5). Using single-strand conformation polymorphism (SSCP) and sequencing methods for mutation analysis, we have characterized 92% of the chromosomes analyzed and identified 16 different WD-causing mutations, 6 of which (-441/-427del, 213–214delAT, 1512–1513insT, R778W, 2463delC, and V1146M) are relatively common and account for 85% of chromosomes (6). On the basis of these data, we developed a reverse dot-blot (RDB) method as a practical solution to mutation screening in this population.

DNA samples from Sardinian WD patients carrying different combinations of the most common mutations (-441/-427del, 2463delC, V1146M, 213–214delAT, 1512–1513insT, and R778W) were used as controls. Our aim was to obtain the same PCR conditions for all six pairs of primers that were used to amplify the regions containing the six most common mutations. We therefore designed primers with an identical melting temperatures and tested their specificity first in single and then in multiplex PCRs. We also wanted to obtain relatively equal yields for all PCR products to obtain comparable signals using the RDB method. We therefore tested different concentrations for each pair of primers . . . [Full Text of this Article]

The following articles in journals at HighWire Press have cited this article:

				C. M. Mak, C.-W. Lam, and S. Tam Diagnostic Accuracy of Serum Ceruloplasmin in Wilson Disease: Determination of Sensitivity and Specificity by ROC Curve Analysis among ATP7B-Genotyped Subjects Clin. Chem., August 1, 2008; 54(8): 1356 - 1362. [Abstract] [Full Text] [PDF]